41. Homocystinuria Medical Information homocystinuria Information from Drugs.com. Definition. homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. http://www.drugs.com/enc/homocystinuria.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Homocystinuria Injury Disease Nutrition Poison ... Pectus excavatum Homocystinuria Definition Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names Cystathionine beta synthase deficiency Causes Homocystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected. Typical problems seen in people with homocystinuria are nearsightedness dislocation of the lens of the eye, and a tendency to develop blood clots in the veins and arteries. Newborn infants appear normal, and early symptoms, if present at all, are vague and may occur as mildly delayed development or

42. HighWire -- Browse Journals - Homocystinuria Browse Journals publishing on homocystinuria, (return to Topic List page) Journals focusing on homocystinuria (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/608684/610114/610246/610287/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Homocystinuria: (return to Topic List page) Homocystinuria Sort by: Alphabet Frequency of articles in Homocystinuria Focus of journal on Homocystinuria What's this? Journals focusing on Homocystinuria (in order by highest focus) Archives of Ophthalmology info Blood info ... Connective Tissue Diseases Homocystinuria Home Adv. Search For Institutions For Publishers ... partners/suppliers

43. HighWire -- Browse Journals - Homocystinuria Browse Journals publishing on homocystinuria, (return to Topic List page) Journals frequently publishing on homocystinuria (in order by most frequent) http://highwire.stanford.edu/lists/topic_dir/608683/608684/610114/610246/610287/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Homocystinuria: (return to Topic List page) Homocystinuria Sort by: Alphabet Frequency of articles in Homocystinuria Focus of journal on Homocystinuria What's this? Journals frequently publishing on Homocystinuria (in order by most frequent) Archives of Ophthalmology info Blood info ... Connective Tissue Diseases Homocystinuria Home Adv. Search For Institutions For Publishers ... partners/suppliers

44. AllRefer Health - Homocystinuria (Cystathionine Beta Synthase Deficiency) homocystinuria (Cystathionine Beta Synthase Deficiency) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, http://health.allrefer.com/health/homocystinuria-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Homocystinuria Homocystinuria Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Cystathionine Beta Synthase Deficiency Definition Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Pectus Excavatum Homocystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected. Usual findings in homocystinuria are nearsightedness dislocation of the lens of the eye, and a tendency to develop blood clots in the veins and arteries.

45. AllRefer Health - Homocystinuria Prognosis (Expectations) (Cystathionine Beta Sy homocystinuria (Cystathionine Beta Synthase Deficiency) information center covers Prognosis (Expectations). http://health.allrefer.com/health/homocystinuria-prognosis.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Homocystinuria : Prognosis of Homocystinuria Homocystinuria Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider Go To Main Page Alternate Names : Cystathionine Beta Synthase Deficiency Homocystinuria Prognosis (Expectations) Although no specific cure exists for homocystinuria, approximately half of the affected people can be helped by vitamin B6 therapy. If the diagnosis is made while a patient is young, a low methionine diet started promptly and strictly adhered to can spare some mental retardation and other complications of the disease. For this reason, some states screen for homocystinuria in all newborns. Unfortunately, patients with persistent increases in blood homocysteine levels are at increased risk for blood clots, which can cause significant medical problems and shorten life span.

46. Homocystinuria - Swedish Medical Center, Seattle, Washington homocystinuria Swedish Medical Center, Seattle, Washington. http://www.swedish.org/14447.cfm

PDF Version Search Send-to-Friend Health Library Home ... Conditions InBrief Homocystinuria by Rick Alan Definition Causes Risk Factors ... Prevention Definition Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET). Amino acids are the building blocks of protein. Homocystinuria occurs in approximately 1 in 100,000 people. People with homocystinuria lack enzymes that the body needs to properly break down the sulfur-containing amino acid methionine. A deficiency in any of several enzymes can lead to the disorder. In the most common form of the disorder, there is a deficiency of the enzyme cystathionine synthetase. Due to the enzyme deficiency, the body cannot properly metabolize MET and homocysteine. The result is impaired growth, development, and tissue repair. A form of the excess homocysteine appears in the urine and blood. Causes Homocystinuria is inherited as an autosomal recessive trait. This means that it occurs when a child inherits two defective genes”one from each parent. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. A child is only at risk for this disorder if both parents are carriers of the faulty gene that causes it.

47. Homocystinuria - NewbornScreening.Com homocystinuria is caused when a baby is unable to use the amino acid homocystinuria refers to elevated excretion of the amino acid homocystine. http://www.newbornscreening.com/cms/Homocystinuria.shtml

Home Page All News About Newborn Screening Condition Profiles Discussion Forum Lab Profiles UPDATED Choose from the below list. Australia Japan India Philippines -US States Alabama Alaska Arizona Arkansas California Colorado Connecticut Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Lousiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington D.C. Washington State West Virginia Wisconsin Wyoming Public Health News Homocystinuria Condition: Homocystinuria "Homocystinuria is caused when a baby is unable to use the amino acid methionine found in proteins of foods. This disorder can lead to mental retardation, seizures and usually death. A special low-protein diet helps to avoid many of these problems." - Vermont Newborn Screening More technical information from the Mountain States Genetic Network: Metabolic Pathway: HCU Clinical Features There is some evidence that heterozygotes (carriers) may be at increased risk for arteriosclerotic cardiovascular disease.

48. Homocystinuria homocystinuria Updated April 4, 2004 What is homocystinuria? Vancouver Hospital, Vancouver BC; Newborn Screening Fact Sheets homocystinuria American http://www.noah-health.org/en/genetic/conditions/homocyst.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Homocystinuria Updated: April 4, 2004 Homocystinuria Save Babies Through Screening Foundation Homocystinuria National Coalition for PKU and Allied Disorders How Can Friends and Family Help? Vancouver Hospital, Vancouver BC How Do People Get Homocystinuria? Vancouver Hospital, Vancouver BC How is Homocystinuria Treated? Vancouver Hospital, Vancouver BC What is Homocystinuria? Vancouver Hospital, Vancouver BC Newborn Screening Fact Sheets: Homocystinuria American Academy of Pediatrics Researched by NOAH Contributing Editor: NOAH Team NOAH Genetic Diseases Specific Conditions > Homocystinuria Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

49. Search Result For "Homocystinuria" homocystinuria; homocystinuria; How Can Friends and Family Help?; How Do People Get homocystinuria?; How is homocystinuria Treated?; What is homocystinuria? http://www.noah-health.org/search/results.php?lang=1&keyword=Homocystinuria&dtyp

50. Rare Pediatric Disease Database WHAT homocystinuria is a metabolic disease where there is a problem breaking down a protein Patients with homocystinuria are deficient in this enzyme. http://www.madisonsfoundation.org/content/3/1/display.asp?did=272

51. HEalth Professionals Guide To Newborn Screeing: Homocystinuria homocystinuria Hypermethioninemia. Autosomal recessive amino acid disorder Treatment, The treatment for homocystinuria is the dietary restriction of http://www.slh.wisc.edu/newborn/guide/homocystinuria.php

WSLH Newborn Guide Homocystinuria ... Advisory Committee Health Professionals Guide to Newborn Screening: Newborn Screeing Disorders Autosomal recessive amino acid disorder caused primarily by a deficiency in cystathionine beta synthase enzyme activity causing the build-up of the amino acid methionine in the blood. Early detection and treatment can prevent associated mental retardation, seizures, motor development delays, weakening of bones, and venous and arterial blood clots. Prevalence (WI): Analyte Measured: Methionine Reporting Ranges: Feeding Effect: None Timing Effect: 24 hours of age: Results are valid Confirmation: Immediate consult with a metabolic specialist at a metabolic treatment center. Treatment: The treatment for homocystinuria is the dietary restriction of methionine as well as large doses of vitamin B6 and betaine. Information on treatment centers is also available on this site. For information about other screened disorders, click on the next page button, or follow one of these links:

52. Newborn Screening Program - Homocystinuria homocystinuria (HCU) is an inherited disorder of amino acid metabolism, In Illinois, newborn screening for homocystinuria is performed using tandem mass http://www.idph.state.il.us/HealthWellness/fs/homocystinuria.htm

Homocystinuria Definition Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. Clinical Symptoms Typically the child with HCU is asymptomatic in the first few months of life. Clinical signs of HCU include developmental delay and ectopia lentis. Osteoporosis and predisposition to thromboembolism may be complications of the disorder. Newborn Screening and Definitive Diagnosis In Illinois, newborn screening for homocystinuria is performed using tandem mass spectrometry. False positive and false negative results are possible with this screening. Infants with a presumptive positive screening test require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist. All siblings of infants diagnosed with homocystinuria should be tested; and genetic counseling services should be offered to the family. Treatment Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with cystine and medication (betaine). Folic acid and B12 supplements may be beneficial for some patients. Anticoagulants may also be indicated, but not typically for infants. Some individuals with HCU may respond to vitamin B6 (pyridoxine) supplements.

53. ORPHAN EUROPE - Homocystinuria homocystinuria belongs to a group of disorders known as inborn errors of The term homocystinuria refers to an accumulation of very high levels of the http://www.orphan-europe.com/homocystinurie_gb.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... Job opportunities Orphan Europe (UK) Ltd. Patient organisations Contact What is homocystinuria ? Homocystinuria belongs to a group of disorders known as inborn errors of metabolism. Metabolism is a collective name comprising all biochemical actions taking place in the human body. There are many metabolic diseases which present with different features depending on which biochemical pathway is affected. The term homocystinuria refers to an accumulation of very high levels of the biochemical molecule homocysteine in the blood and urine. Homocysteine is an amino acid derived from methionine (another amino acid). Amino acids are the building blocks of proteins, which are present in food (e.g. meat, fish, milk, cheese, eggs), but which are also major constituents of all cells in the human body. People suffering from homocystinuria cannot efficiently remove homocysteine from the blood. This is due to a deficiency of one of a number of enzymes responsible for converting homocysteine to a less toxic molecule. Homocysteine therefore builds up, and reaches abnormally high levels in blood and urine. There are 3 different types of homocystinuria, each depending on which particular enzyme is affected:

54. Homocystinuria - Patient UK homocystinuria Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40002432/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Homocystinuria Incidence Neonatal screening (Guthrie test) has shown the incidence to be 1 in 157,000, while that in Ireland is much higher at 1 in 65,000. All cases are autosomal recessive. Homocystinuria due to Cystathionine beta-synthase (CBS) deficiency (gene locus 21q22.3) results in increased urinary homocystine and methionine. It is the commonest cause of homocystinuria in patients of Celtic origin. 50% are responsive to pyridoxine (vitamin B ) and these have milder manifestations. Skeletal features: Normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation , high arched palate, crowded teeth, arachnodactyly, limited joint mobility, pectus excavatum/carinatum, kyphoscoliosis. Eyes : Ectopia lentis, myopia, glaucoma CNS : Mental retardation (Average IQ = 80; 30% have normal IQ), seizures, CVA, psychiatric disorders.

55. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor homocystinuria An article about disorder, as to what it is, Drkoop Medical Encyclopedia homocystinuria - An in depth look at this disorder, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Metabolic : Homocystinuria Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Health: Conditions and Diseases: Rare Disorders Search Google: Homocystinuria News Books Links [ More news about Homocystinuria Error: We did not find any matches for your request. [ More books about Homocystinuria Homocystinuria - An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program. NORD: Homocystinuria - Offers alternative names, a general discussion and further resources. Drkoop: Medical Encyclopedia: Homocystinuria - An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention, complications, prognosis, diagnosis and treatment. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Can't find it? Try searching Science

56. Homocystinuria of Jan P. Kraus within the Department of Pediatrics at the University of Colorado Health Sciences Center. homocystinuria; Cystathionine betaSynthase; http://bioresearch.ac.uk/browse/mesh/D006712.html

low graphics Homocystinuria other: Oculocerebrorenal Syndrome Cystathionine beta-synthase Cystathionine beta-synthase (CBS), is a multifunctional enzyme that catalyses beta-replacement reactions between L-serine, L-cysteine, cysteine thioethers, or some other beta-substituted alpha-L-amino acids, and a variety of mercaptans. Information is given on the CBS enzyme (metabolism, expression, structure), the CBS gene (gene map, genomic sequence, CBS polymorhisms, exon-intron junctions), and CBS mutations. Access is also provided to the CBS mutation database, which lists all CBS alleles, CpG dinucleotides in the CBS, and a map of all CBS mutations. Made available on the Web by the laboratory of Jan P. Kraus within the Department of Pediatrics at the University of Colorado Health Sciences Center. Homocystinuria Cystathionine beta-Synthase Last modified: 02 Sep 2005

57. Eastern Mediterranean Health Journal, Vol. 5 No. 6, Classic Homocystinuria: Clin Classic homocystinuria clinical, biochemical and radiological observations, Classic homocystinuria is the most common inborn error of methionine http://www.emro.who.int/Publications/EMHJ/0506/17.htm

Eastern Mediterranean Health Journal Back to Health Journal page Health Journal back issues Home Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients Volume 5, Issue 6, 1999, Page 1196-1203 M.A. Al-Essa, M.S. Rashed and P.T. Ozand SUMMARY We considered the clinical, biochemical and radiological findings, and response to pyridoxine (vitamin B ) of 24 classic homocystinuric patients (15 females, 9 males) diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical findings included ectopia lentis (20 patients), skeletal system involvement (18 patients), vascular system involvement (9 patients) and mental retardation (all patients to varying degrees). A number of unusual findings were reported. The parents of 21 patients were first-degree relatives and 19 patients had at least one other family member affected by the same disease. Only 4 patients responded to pyridoxine; their methionine level decreased to almost normal range. Introduction Classic homocystinuria is the most common inborn error of methionine metabolism due to cystathionine b-synthase deficiency (CBS) [ ]. It leads to significant hypermethionaemia and increased plasma total homocystine (free, disulfide and protein-bound forms). There is also increased excretion of methionine and disulfides, homocystine and cysteine-homocysteine. Infants with this disorder have non-specific complaints. After the age of 3 years, sublaxation of the ocular lenses are is [

58. Homocystinuria - Alegent Health Serving Eastern Nebraska And Southwest Iowa homocystinuria courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley, http://www.alegent.com/12569.cfm

@import url(default.css); Back to Health Library Print This Page Email to a Friend Pectus excavatum Homocystinuria Definition: Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names: Cystathionine beta synthase deficiency Causes, incidence, and risk factors: Homocystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected. Typical problems seen in people with homocystinuria are nearsightedness dislocation of the lens of the eye, and a tendency to develop blood clots in the veins and arteries. Newborn infants appear normal, and early symptoms, if present at all, are vague and may occur as mildly delayed development or failure to thrive . Increasing visual problems may lead to diagnosis of this condition when the child, on examination, is discovered to have dislocated lenses and nearsightedness. Some degree of mental retardation is usually seen, but some affected people have normal IQs. When mental retardation is present, it is generally progressive if left untreated. The condition can also increase the risk for psychiatric disorders. Homocystinuria has several features in common with Marfan syndrome , including dislocation of the lens; a tall, thin build with long limbs; spidery fingers (

59. Short Description Of Cell Lines. Pathology: Homocystinuria *236200 Pathology homocystinuria *236200 OMIM record. By selecting the cell line name, you will receive the detailed description of the cell line http://www.biotech.ist.unige.it/cldb/pat123.html

Version Short description of cell lines. Pathology: homocystinuria OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM human, Caucasian ... By Beatrice...

60. Short Description Of Cell Lines. Pathology: Homocystinuria - Megaloblastic Anemi Pathology homocystinuria megaloblastic anemia *236270 OMIM record. - By selecting the cell line name, you will receive the detailed description of the http://www.biotech.ist.unige.it/cldb/pat279.html

Version Short description of cell lines. Pathology: homocystinuria - megaloblastic anemia OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM human, Caucasian ... By Beatrice...

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